Center For Large-Scale Genome Sequencing & Analysis

就在三年前，我们主要关注产能和成本，而 基因组测序和分析的格局已经发生了变化，我们现在发现我们的注意力 专注于我们的技术平台和我们的专业知识在大规模疾病致病研究中的应用 人类基因组的元素。这一演变是两个主要因素的结果。第一个是高质量 人类基因组的参考序列；近年来，该序列的质量和价值 而伴随而来的注释由于对其他物种的基因组进行测序而得到了极大的改进 有机体。第二个因素是提供足够低成本的新技术的出现 测序能力，便于询问许多个体人类基因组，以寻找 作为疾病易感性和发病机制基础的序列变异。在这份提案中，我们描述了我们的 现有的基因组技术平台，我们在基因组测序和分析方面的丰富经验，以及我们 讨论如何利用这些资源作为NHGRI大规模排序的组成部分 程序。此外，我们还描述了新的肿瘤测序项目和五个“中心启动”的项目 这进一步说明了我们的技术平台将如何影响基因组生物学和基因组学领域 未来几年的医学研究。

Whereas only three years ago we concerned ourselves mainly with production capacity and costs, the landscape of genome sequencing and analysis has changed to the point that we now find our attention focused on the application of our technology platform and our expertise to large-scale studies of the diseasecausing elements of the human genome. This evolution is the result of two major factors. The first is a highquality reference sequence of the human genome; in recent years, the quality and value of both the sequence and the attendant annotation have been greatly improved as a result of sequencing the genomes of other organisms. The second factor is the emergence of new technology that provides sufficient low-cost sequencing capacity to facilitate the interrogation of many individual human genomes in search of the sequence variants that underlie disease susceptibility and pathogenesis. In this proposal, we describe our extant genome technology platform, our extensive experience in sequencing and analyzing genomes, and we discuss how these resources may be brought to bear as a component of the NHGRI large-scale sequencing program. Additionally, we describe the new Tumor Sequencing Project and five "center- initiated" projects that further illustrate how our technology platform will impact the fields of genome biology and genomic medicine over the next several years.